Canonical Allele Identifier: CA374350985
Gene: GABBR2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98541940T>C , CM000671.2:g.98541940T>C GRCh38
NC_000009.11:g.101304222T>C , CM000671.1:g.101304222T>C GRCh37
NC_000009.10:g.100344043T>C NCBI36
NG_016426.1:g.172258A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000259455.4:c.563A>G MANE Select ENSP00000259455.2:p.Lys188Arg
ENST00000637410.1:n.341A>G
ENST00000637717.1:c.179A>G ENSP00000490789.1:p.Lys60Arg
ENST00000259455.3:c.563A>G ENSP00000259455.2:p.Lys188Arg
ENST00000477471.1:n.350A>G
ENST00000634227.1:n.337A>G
NM_005458.7:c.563A>G NP_005449.5:p.Lys188Arg
XM_017015331.2:c.269A>G XP_016870820.1:p.Lys90Arg
NM_005458.8:c.563A>G MANE Select NP_005449.5:p.Lys188Arg